Bleomycin-detectable iron and phenanthroline-detectable copper in the cerebrospinal fluid of patients with neuronal ceroid-lipofuscinoses

✍ Scribed by Heiskala, Hannu ;Gutteridge, John M. C. ;Westermarck, Tuomas ;Alanen, Tuija ;Santavuori, Pirkko ;Opitz, John M. ;Reynolds, James F. ;Pullarkat, Raju K.

• Publisher: John Wiley and Sons
• Year: 1988
• Tongue: English
• Weight: 569 KB
• Volume: 31
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320310622

✦ Synopsis

The neuronal ceroid-lipofuscinoses (NCLs) are a group of recessively inhented neurodegenerative lysosomal storage diseases, the pathogenesis of which is unknown.

In the present study, we have rneasured iron and w p e r in cerebrospinal fluids (CSF) using methods that detect these metals in a "loosely bound" form, complexable to the chelators bleomycin and 1,1 O-phenanthroline. We studied 25 children with NCL, 21 children with encephalopathy of sorne other type, and 5 control children without neurological complications. The CSF concentrations of loosely bound iron at neutral pH values and of loosely bound copper did not correlate with the clinical diagnosis of the patients, nor did they parallel degenerative symptoms in NCL, such as mental irnpairrnent, visual loss, motor handicap, and epilepsy. However, the concentrations of loosely bound iron and copper increased significantly with the age of the patient; this is a novel finding and may represent increasing tissue destruction with age. Our present findings do not s u p p t a major role for primary iron toxicity in the developrnent of neuronal degeneration. To investigate any secondary pathological role for malplaced transition rnetals, further research is required.